A13V (p.Ala13Val) variant of XPA (P23025)
A13V (p.Ala13Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs778123456
- gnomAD rs778123456
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.06
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available